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Publications by Renzo Guerrini

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations

Molecular Biology

Cancer Research

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

Clinical and Genetic Factors Predicting Dravet Syndrome in Infants With SCN1A Mutations

English

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Frontiers in Cellular Neuroscience

Molecular Neuroscience

English

Antiepileptic Drug Treatment in Children With Epilepsy

English

Clinical Features and Outcome of 6 New Patients Carrying De Novo KCNB1 Gene Mutations

Neurology: Genetics

English